Haack, TB;Hogarth, P;Kruer, MC;Gregory, A;Wieland, T;Schwarzmayr, T;Graf, E;Sanford, L;Meyer, E;Kara, E;Cuno, SM;Harik, SI;Dandu, VH;Nardocci, N;Zorzi, G;Dunaway, T;Tarnopolsky, M;Skinner, S;Frucht, S;Hanspal, E;Schrander-Stumpel, C;Heron, D;Mignot, C;Garavaglia, B;Bhatia, K;Hardy, J;Strom, TM;Boddaert, N;Houlden, HH;Kurian, MA;Meitinger, T;Prokisch, H;Hayflick, SJ
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Am J Hum Genet
2012
91
6
1144-9

Haack, TB;Makowski, C;Yao, Y;Graf, E;Hempel, M;Wieland, T;Tauer, U;Ahting, U;Mayr, JA;Freisinger, P;Yoshimatsu, H;Inui, K;Strom, TM;Meitinger, T;Yonezawa, A;Prokisch, H
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
J Inherit Metab Dis
2012
35
6
943-8

Danhauser, K;Sauer, SW;Haack, TB;Wieland, T;Staufner, C;Graf, E;Zschocke, J;Strom, TM;Traub, T;Okun, JG;Meitinger, T;Hoffmann, GF;Prokisch, H;Kolker, S
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
Am J Hum Genet
2012
91
6
1082-7

Ghezzi, D;Baruffini, E;Haack, TB;Invernizzi, F;Melchionda, L;Dallabona, C;Strom, TM;Parini, R;Burlina, AB;Meitinger, T;Prokisch, H;Ferrero, I;Zeviani, M
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
Am J Hum Genet
2012
90
6
1079-87

Hartig, MB;Prokisch, H;Meitinger, T;Klopstock, T
Pantothenate kinase-associated neurodegeneration.
Curr Drug Targets
2012
13
9
1182-9

Brackmann, F;Abicht, A;Ahting, U;Schröder, R;Trollmann, R
Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.
Eur J Pediatr
2012
171
5
859-62

Jaklin, C;Heiliger, K;Hempel, M;Sollacher, D;Cohen, M;Makowski, CC;Meitinger, T;Jauch, A;Oexle, K
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy.
Eur J Med Genet
2012
55
10
568-72

Steenweg, ME;Ghezzi, D;Haack, T;Abbink, TE;Martinelli, D;van Berkel, CG;Bley, A;Diogo, L;Grillo, E;Te Water Naudé, J;Strom, TM;Bertini, E;Prokisch, H;Van der Knaap, MS;Zeviani, M
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Brain
2012
135
Pt 5
1387-94

Rauch, A;Wieczorek, D;Graf, E;Wieland, T;Endele, S;Schwarzmayr, T;Albrecht, B;Bartholdi, D;Beygo, J;Di Donato, N;Dufke, A;Cremer, K;Hempel, M;Horn, D;Hoyer, J;Joset, P;Röpke, A;Moog, U;Riess, A;Thiel, CT;Tzschach, A;Wiesener, A;Wohlleber, E;Zweier, C;Ekici, AB;Zink, AM;Rump, A;Meisinger, C;Grallert, H;Sticht, H;Schenck, A;Engels, H;Rappold, G;Schröck, E;Wieacker, P;Riess, O;Meitinger, T;Reis, A;Strom, TM
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet
2012
380
9854
1674-82

Mayr, JA;Haack, TB;Graf, E;Zimmermann, FA;Wieland, T;Haberberger, B;Superti-Furga, A;Kirschner, J;Steinmann, B;Baumgartner, MR;Moroni, I;Lamantea, E;Zeviani, M;Rodenburg, RJ;Smeitink, J;Strom, TM;Meitinger, T;Sperl, W;Prokisch, H
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Am J Hum Genet
2012
90
2
314-20